Pathology EMQ template.

Name: Andrew Owusu-Agyei       

Theme: Porphyrias

 

OPTION LIST

 

A	Congenital erythropoietic porphyria
B	Variegate porphyria
C	Acute intermittent porphyria
D	Erythropoietic protoporphyria
E	ALA dehydratase deficiency
F	Porphyria cutanea tarda
G	Hereditary coproporphyria
H	X-linked sideroblastic anaemia

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1. Patient develops eruption of skin blisters on exposure to sunlight. Diagnosis is confirmed by fluorescence emission spectroscopy indicating a specific porphyrin-protein complex

 

2. Caused by a deficienc y in coproporphyrinogen oxidase

 

3. A patient complains of urine turning dark on standing. Laboratory results show raised ALA, raised PBG and low eryhtrocyte PBG deaminase

 

4. A rare autosomal recessive inherited condition. Causes disfiguring scars in response to sunlight, blindess, brownish discolouration of the teeth and dystrophy of the nails

 

5. A porphyria usually triggered by toxin or other agents which affect the liver – notably alcohol. Associated with cancers of the liver

 

 

ANSWERS

1. B

2. G

3. C

4. A

5. F

 

1)    Protoporphyrinogen oxidase deficiency. Fluorescence emission spectroscopy of plasma differentiates VP from other cutaneous porphyrias

 

2)    -

 

3)   -

 

4)   Uroporphyrinogen cosynthase deficiency. Blindess is due to lenticular scarring

 

5)  Uroporphyrinogen decarboxylase deficiency. Enzyme defect may be within the liver or in RBCs in others. Some are born with the condition, but in many it is triggered by alcohol, Hep C, HIV, oestrogen containing medicines, pesticides etc